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@article{1159166,
author = {Soucek, O. and Zapletalova, J. and Zemkova, D. and Snajderova, M. and Novotná, Dana and Hirschfeldova, K. and Plasilova, I. and Kolouskova, S. and Rocek, M. and Hlavka, Z. and Lebl, J. and Sumnik, Z.},
article_location = {The Endocrine Society},
article_number = {7},
doi = {http://dx.doi.org/10.1210/jc.2013-1113},
keywords = {LERI-WEILL DYSCHONDROSTEOSIS; IDIOPATHIC SHORT STATURE; QUANTITATIVE COMPUTED-TOMOGRAPHY; X-RAY ABSORPTIOMETRY; MINERAL DENSITY; GENE SHOX; PROXIMAL RADIUS; GROWTH FAILURE; PREVALENCE; FRACTURES},
language = {eng},
issn = {0021-972X},
journal = {JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM},
title = {Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius},
volume = {98},
year = {2013}
}
TY - JOUR
ID - 1159166
AU - Soucek, O. - Zapletalova, J. - Zemkova, D. - Snajderova, M. - Novotná, Dana - Hirschfeldova, K. - Plasilova, I. - Kolouskova, S. - Rocek, M. - Hlavka, Z. - Lebl, J. - Sumnik, Z.
PY - 2013
TI - Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius
JF - JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
VL - 98
IS - 7
SP - E1241-E1247
EP - E1241-E1247
PB - CHEVY CHASE
SN - 0021972X
KW - LERI-WEILL DYSCHONDROSTEOSIS
KW - IDIOPATHIC SHORT STATURE
KW - QUANTITATIVE COMPUTED-TOMOGRAPHY
KW - X-RAY ABSORPTIOMETRY
KW - MINERAL DENSITY
KW - GENE SHOX
KW - PROXIMAL RADIUS
KW - GROWTH FAILURE
KW - PREVALENCE
KW - FRACTURES
N2 - Context: The low bone mineral density (BMD) and alterations in bone geometry observed in patients with Turner syndrome (TS) are likely caused by hypergonadotropic hypogonadism and/or by haploinsufficiency of the SHOX gene. Objective: Our objective was to compare BMD, bone geometry, and strength at the radius between prepubertal girls with TS and children with isolated SHOX deficiency (SHOX-D) to test the hypothesis that the TS radial bone phenotype may be caused by SHOX-D. Design and Setting: This comparative cross-sectional study was performed between March 2008 and May 2011 in 5 large centers for pediatric endocrinology. Patients: Twenty-two girls with TS (mean age 10.3 years) and 10 children with SHOX-D (mean age 10.3 years) were assessed using peripheral quantitative computed tomography of the forearm. Main outcomes: BMD, bone geometry, and strength at 4% and 65% sites of the radius were evaluated. Results: Trabecular BMD was normal in TS (mean Z-score = -0.2 +/- 1.1, P = .5) as well as SHOX-D patients(mean Z-score = 0.5 +/- 1.5, P = .3). At the proximal radius, we observed increased total bone area (Z-scores = 0.9 +/- 1.5, P = .013, and 1.5 +/- 1.4, P = .001, for TS and SHOX-D patients, respectively) and thin cortex (Z-scores = -0.7 +/- 1.2, P = 0.013, and -2.0 +/- 1.2, P < .001, respectively) in both groups. Bone strength index was normal in TS as well as SHOX-D patients (Z-scores = 0.3 +/- 1.0, P = .2, and 0.1 +/- 1.3, P = .8, respectively). Conclusions: The similar bone geometry changes of the radius in TS and SHOX-D patients support the hypothesis that loss of 1 copy of SHOX is responsible for the radial bone phenotype associated with TS.
ER -
SOUCEK, O., J. ZAPLETALOVA, D. ZEMKOVA, M. SNAJDEROVA, Dana NOVOTNÁ, K. HIRSCHFELDOVA, I. PLASILOVA, S. KOLOUSKOVA, M. ROCEK, Z. HLAVKA, J. LEBL a Z. SUMNIK. Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius. \textit{JOURNAL OF CLINICAL ENDOCRINOLOGY \&{} METABOLISM}. The Endocrine Society: CHEVY CHASE, 2013, roč.~98, č.~7, s.~E1241-E1247, 7 s. ISSN~0021-972X. Dostupné z: https://dx.doi.org/10.1210/jc.2013-1113.
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